Soluble carrier family 7, member 2

Ensembl gene entry
Ensembl gene location
Omim gene
Genetics Home Reference entry

Diseases associated to this gene:

Finnish Mutations

Mutation Consequence Amino acid change Reference sequence Articles
c.1181-2A>T splice site mutation 10080183, 10080182

Foreign Mutations

Mutation Consequence Amino acid change Reference sequence Population Articles
IVS3+1G>A splice site mutation, skipping of exon 4 Y18474 Japanese 10631139, 10655553, 10737982
IVS3-IVS5del9.7kb AF092032 Japanese 12402335
IVS3_IVS5del deletion of exons 4&5 (5.3kb) Japanese 11544277
IVS6+1G>T not known Y18474 Japanese 10631139
IVS6-2A>G splice site mutation Lithuanian 17666782
S238F S238F Japanese 12402335
S489P S489P Japanese 12402335
c.104-106del E36del Greek 15756301
c.1093A>T N365Y NM_003982 German 17764084
c.1273T>C C425R NM_003982 Spanish 18716612
c.1287T>C L334R Spanish 10080182
c.1291_1294delCTTT frameshift, truncated protein Spanish 10080182
c.1299G>A G338D Swedish 10655553
c.1371C>A Y457X AF092032.1 Greek, French-Algerian 15776427
c.1399C>A S386R Y18474 Italian 10631139
c.1402C>T R468X NM_003982 Greek 18716612
c.1425delTTCT L395fs Y18474 German, Tunisian, Algerian, Italian 10631139, 10655553
c.1438_1442dupAACTA Y384X Canadian 10655553
c.149T>A M50K AF092032.1 Italian 15776427
c.14C>T T5I NM_003982 Turkish 17764084
c.1514C>T R410X AF092032 Moroccan, Japanese 18716612, 10737982
c.1548delC prolonged protein F420fs Saudi-Arabic 10655553
c.158C>T S53L NM_003982 Turkish 17764084
c.1625insATCA frameshift, truncated protein Y18474 Italian 10080183
c.1630delC AF092032 Japanese 12402335
c.1657C>A Y457X French, Greek 11377971
c.1673delG AF092032 Japanese 12402335
c.1703C>T R473X Australian 10655553
c.1746delG prolonged protein L486fs Norwegian, Dutch 10655553
c.197del543 deletion of the first 163 codons Y18474 Italian 10080183
c.242A>C M1L Y18474 Italian 10631139
c.370T>C L124P NM_003982 Greek 17764084
c.371T>C L124P NM_003982 Greek 18716612
c.418G>C A140P NM_003982 Italian 17764084
c.435T>A M50K Italian 11377971
c.447G>T G54V Estonian, Latvian 10655553
c.453T>C F152L Greek 15756301
c.455delCTCT L71fs Y18474 Italian 10631139
c.499+?_629-? EX4del AF092032.1 Pakistani 15776427
c.500-4294_1908+1028del12136 L168_N511delfsX19 NM_003982 Spanish 18716612
c.539delTT V84fs Turkish 10655553
c.563C>T T188I AF092032.1 Greek 15776427
c.571A>G K191E NM_003982 German 17764084
c.622C>T Q208X NM_003982 German 17764084
c.625+1G>C C167_G209delinsX NM_003982 English/Argentinian 18716612
c.753G>T E251D NM_003982 Italian 17764084
c.771-848_1908+718del4647 N258_N511delinsX NM_003982 Spanish 18716612
c.782T>C L261P NM_003982 Italian 17764084
c.786del125 I166fs Pakistani 11377971
c.786insT L182fs Y18474 Moroccan, Italian 10631139, 10655553
c.820dupT Y274fsX21 NM_003982 English/Argentinian 18716612
c.967G>A W242X Y18474 Italian 10631139
c.997G>T R333M AF092032.1 Turkish 15776427